Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519922
rs1057519922
7 0.790 0.200 2 177234082 missense variant C/G;T snv 0.800 1.000 1 2017 2017
dbSNP: rs1553487942
rs1553487942
1 1.000 2 177234076 missense variant C/T snv 0.800 1.000 1 2017 2017
dbSNP: rs1553487947
rs1553487947
1 1.000 2 177234078 missense variant G/T snv 0.800 1.000 1 2017 2017
dbSNP: rs1553488015
rs1553488015
2 0.925 0.080 2 177234226 missense variant C/T snv 0.800 1.000 1 2017 2017